Canonical Allele Identifier: CA1647666

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47021902T>C , CM000664.2:g.47021902T>C	GRCh38
NC_000002.11:g.47249041T>C , CM000664.1:g.47249041T>C	GRCh37
NC_000002.10:g.47102545T>C	NCBI36
NG_034143.1:g.110774T>C
NG_034143.2:g.110774T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1433T>C MANE Select	NP_065191.2:p.Leu478Pro
ENST00000319190.11:c.1433T>C MANE Select	ENSP00000316699.5:p.Leu478Pro
NM_001288951.1:c.1433T>C	NP_001275880.1:p.Leu478Pro
NM_001288951.2:c.1433T>C	NP_001275880.1:p.Leu478Pro
NM_001288953.1:c.1331T>C	NP_001275882.1:p.Leu444Pro
NM_001288953.2:c.1331T>C	NP_001275882.1:p.Leu444Pro
NM_001288955.1:c.371T>C	NP_001275884.1:p.Leu124Pro
NM_001288955.2:c.371T>C	NP_001275884.1:p.Leu124Pro
NM_020458.3:c.1433T>C	NP_065191.2:p.Leu478Pro
ENST00000319190.9:c.1433T>C	ENSP00000316699.5:p.Leu478Pro
ENST00000394850.6:c.1433T>C	ENSP00000378320.2:p.Leu478Pro
ENST00000409245.5:c.1331T>C	ENSP00000386307.1:p.Leu444Pro
ENST00000409825.5:c.1381T>C
ENST00000440051.1:c.318-1506T>C
ENST00000441914.5:c.1274T>C
ENST00000461601.5:n.1758T>C
ENST00000484061.5:n.676-2385T>C
ENST00000491786.5:n.837T>C
ENST00000651101.1:n.381T>C
ENST00000651415.1:n.224T>C
ENST00000652236.1:n.192T>C
ENST00000652568.1:n.184-1506T>C
ENST00000698500.1:n.3266T>C
XM_005264439.2:c.1076T>C	XP_005264496.1:p.Leu359Pro
XM_005264439.4:c.1076T>C	XP_005264496.1:p.Leu359Pro
XM_011532998.1:c.1076T>C	XP_011531300.1:p.Leu359Pro
XM_011532998.3:c.1076T>C	XP_011531300.1:p.Leu359Pro
XM_011532999.1:c.1433T>C	XP_011531301.1:p.Leu478Pro
XM_011532999.2:c.1433T>C	XP_011531301.1:p.Leu478Pro
XM_011533000.1:c.653T>C	XP_011531302.1:p.Leu218Pro
XM_011533000.3:c.653T>C	XP_011531302.1:p.Leu218Pro
XM_011533001.1:c.386T>C	XP_011531303.1:p.Leu129Pro
XM_011533001.3:c.386T>C	XP_011531303.1:p.Leu129Pro
XM_017004524.1:c.1433T>C	XP_016860013.1:p.Leu478Pro
XM_017004525.1:c.1265T>C	XP_016860014.1:p.Leu422Pro
XM_017004526.1:c.1393-7322T>C	XP_016860015.1:n.1393-7322T>C
XM_017004529.1:c.1433T>C	XP_016860018.1:p.Leu478Pro
XM_024453013.1:c.398T>C	XP_024308781.1:p.Leu133Pro
XR_001738853.2:n.1745T>C
XR_001738854.1:n.1704-1506T>C
XR_939696.1:n.1738T>C